Variant report

Variant	rs548441694
Chromosome Location	chr2:115918405-115918406
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:115918271-115918674	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr2:115918139-115918807	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
3	BHLHE40	chr2:115918127-115918595	HepG2	liver:	n/a	n/a
4	USF1	chr2:115918310-115918596	H1-hESC	embryonic stem cell:	n/a	n/a
5	GTF2F1	chr2:115918351-115918894	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr2:115918018-115918788	HepG2	liver:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
7	MAX	chr2:115918174-115918627	HepG2	liver:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
8	HNF4A	chr2:115918203-115918471	HepG2	liver:	n/a	chr2:115918310-115918318 chr2:115918303-115918317 chr2:115918302-115918317 chr2:115918311-115918323 chr2:115918311-115918323 chr2:115918302-115918317
9	USF2	chr2:115918299-115918686	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr2:115918126-115919369	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115919292-115919302 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
11	E2F6	chr2:115917958-115919412	H1-hESC	embryonic stem cell:	n/a	chr2:115918262-115918273 chr2:115919298-115919310 chr2:115918983-115918992 chr2:115918262-115918273 chr2:115919298-115919307 chr2:115919401-115919410
12	MAX	chr2:115918095-115919702	H1-hESC	embryonic stem cell:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115919292-115919302 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289
13	E2F6	chr2:115918091-115919655	H1-hESC	embryonic stem cell:	n/a	chr2:115918262-115918273 chr2:115919298-115919310 chr2:115918983-115918992 chr2:115918262-115918273 chr2:115919298-115919307 chr2:115919616-115919626 chr2:115919401-115919410
14	RCOR1	chr2:115918238-115918431	HepG2	liver:	n/a	n/a
15	MAX	chr2:115918129-115918445	HepG2	liver:	n/a	chr2:115918279-115918290 chr2:115918281-115918288 chr2:115918279-115918289 chr2:115918278-115918286 chr2:115918280-115918289

Variant related genes	Relation type
DPP10	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014713	chr2:115858427-116018055	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3404972	chr2:115918007-115920855	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3387285	chr2:115918207-115920805	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:115918000-115918600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:115918000-115918600	Flanking Active TSS	Fetal Intestine Small	intestine
3	chr2:115918000-115918600	Flanking Active TSS	Pancreas	Pancrea
4	chr2:115918000-115919000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:115918000-115919800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:115918000-115920000	Active TSS	Brain Angular Gyrus	brain
7	chr2:115918000-115920000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:115918000-115920600	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:115918000-115920800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr2:115918000-115920800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:115918000-115921200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr2:115918200-115918600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:115918200-115918600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:115918200-115918600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
15	chr2:115918200-115918600	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr2:115918200-115918600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
17	chr2:115918200-115918600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
18	chr2:115918200-115918600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
19	chr2:115918200-115918600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
20	chr2:115918200-115918800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr2:115918200-115918800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
22	chr2:115918200-115918800	Bivalent Enhancer	Fetal Thymus	thymus
23	chr2:115918200-115918800	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr2:115918200-115919800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:115918200-115919800	Active TSS	Colonic Mucosa	Colon
26	chr2:115918200-115920000	Active TSS	Fetal Brain Female	brain
27	chr2:115918200-115920200	Active TSS	Gastric	stomach
28	chr2:115918200-115920400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
29	chr2:115918200-115920400	Active TSS	Brain Anterior Caudate	brain
30	chr2:115918200-115920400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:115918200-115920800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:115918200-115921200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:115918400-115918600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:115918400-115918600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:115918400-115918600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr2:115918400-115918600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr2:115918400-115918600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
38	chr2:115918400-115918600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr2:115918400-115918600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:115918400-115918600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:115918400-115918600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
42	chr2:115918400-115918600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:115918400-115918600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:115918400-115918800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:115918400-115918800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr2:115918400-115918800	Bivalent Enhancer	Esophagus	oesophagus
47	chr2:115918400-115918800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
48	chr2:115918400-115918800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr2:115918400-115918800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
50	chr2:115918400-115919000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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